I44M (p.Ile44Met) variant of FLNA (Filamin-A)
I44M (p.Ile44Met) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
I44M (p.Ile44Met) variant details
- p.Ile44Met
- rs2067802950
- ClinGen CA415255416
- ClinVar RCV001091832
- Ensembl rs2067802950
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.95
- MetaLR 0.88
- MetaSVM 0.79
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available